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The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. This gene encodes a lipoprotein receptor that is a member of the LDLR family and plays important roles in VLDL-triglyceride metabolism and the reelin signaling pathway. Mutations in this gene cause VLDLR-associated cerebellar hypoplasia. Alternative splicing generates multiple transcript variants encoding distinct isoforms for this gene.
Gene Name: | very low density lipoprotein receptor |
Synonyms: | VLDLR, CARMQ1, CHRMQ1, VLDL receptor, VLDL-R, VLDLRCH |
Target Sequences: | NM_003383 NP_003374.3 P98155 |
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